Chromosome 17 and the inducible nitric oxide synthase gene in human essential hypertension

Susan Rutherford Siegel, M. P. Johnson, R. P. Curtain, L. R. Griffiths

Research output: Contribution to journalArticle

38 Citations (Scopus)

Abstract

Essential hypertension is a common multifactorial trait that results in a significantly increased risk for heart attack and stroke. The condition has a genetic basis, although at present the number of genes is unknown. In order to identify such genes, we are utilising a linkage scanning approach using microsatellite markers and affected sibships. Here we provide evidence for the location of at least one hypertension susceptibility locus on chromosome 17. Analysis of 177 affected sibpairs gave evidence for significant excess allele sharing to D17S949 (SPLINK: P=0.0029; MAPMAKER SIBS: P=0.0033; ASPEX: P=0.0061; GENEHUNTER: P=0.0096; ANALYZE (SIBPAIR): P=0.0025) on 17q22-24, with significant allele sharing also indicated for an additional marker, D17S799 (SPLINK: P=0.025; MAPMAKER SIBS: P=0.025) located close to the centromere. Since these two genomic regions are well separated, our results indicate that there may be more than one chromosome 17 locus affecting human blood pressure. Moreover, further investigation of this chromosome, utilizing a polymorphism within the promoter of the iNOS candidate gene, NOS2A, revealed both increased allele sharing among sibpairs (SPLINK: P=0.02: ASPEX: P=0.00004) and positive association (P=0.034) of NOS2A to essential hypertension. Hence these results indicate that chromosome 17 and, more specifically, the NOS2A gene may play a role in human essential hypertension.

Original languageEnglish (US)
Pages (from-to)408-415
Number of pages8
JournalHuman genetics
Volume109
Issue number4
DOIs
StatePublished - Nov 28 2001

Fingerprint

Chromosomes, Human, Pair 17
Nitric Oxide Synthase Type II
Alleles
Genes
Centromere
Microsatellite Repeats
Chromosomes
Stroke
Myocardial Infarction
Blood Pressure
Hypertension
Essential Hypertension
poly(styrene-b-isobutylene-b-styrene)

All Science Journal Classification (ASJC) codes

  • Genetics
  • Genetics(clinical)

Cite this

Siegel, S. R., Johnson, M. P., Curtain, R. P., & Griffiths, L. R. (2001). Chromosome 17 and the inducible nitric oxide synthase gene in human essential hypertension. Human genetics, 109(4), 408-415. https://doi.org/10.1007/s004390100565
Siegel, Susan Rutherford ; Johnson, M. P. ; Curtain, R. P. ; Griffiths, L. R. / Chromosome 17 and the inducible nitric oxide synthase gene in human essential hypertension. In: Human genetics. 2001 ; Vol. 109, No. 4. pp. 408-415.
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Siegel, SR, Johnson, MP, Curtain, RP & Griffiths, LR 2001, 'Chromosome 17 and the inducible nitric oxide synthase gene in human essential hypertension', Human genetics, vol. 109, no. 4, pp. 408-415. https://doi.org/10.1007/s004390100565

Chromosome 17 and the inducible nitric oxide synthase gene in human essential hypertension. / Siegel, Susan Rutherford; Johnson, M. P.; Curtain, R. P.; Griffiths, L. R.

In: Human genetics, Vol. 109, No. 4, 28.11.2001, p. 408-415.

Research output: Contribution to journalArticle

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